Details of Disease

General Information of Disease (ID: DISGWSI8)

Disease Name Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Synonyms SFWHS; skin fragility wooly hair syndrome; skin fragility woolly hair syndrome; skin fragility-woolly hair syndrome; skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DIS6O9JS: Diffuse palmoplantar keratoderma
DISGWSI8: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Disease Identifiers
MONDO ID
MONDO_0011882
UMLS CUI
C4755263
MedGen ID
1659950
SNOMED CT ID
778010006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DSP OTB2MOP8 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.